rs267604921, MAPT

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary Progressive Nonfluent Aphasia
CUI: C0751706
Disease: Primary Progressive Nonfluent Aphasia
0.010 GeneticVariation BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648 2016
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.010 GeneticVariation BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648 2016
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.010 GeneticVariation BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648 2016